Canonical Allele Identifier: CA475700132

Gene: SHANK2

Linked Data

• MyVariant Identifiers: chr11:g.70332207T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.70486102T>A , CM000673.2:g.70486102T>A	GRCh38
NC_000011.9:g.70332207T>A , CM000673.1:g.70332207T>A	GRCh37
NC_000011.8:g.70009855T>A	NCBI36
NG_042866.1:g.643695A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338508.9:c.2424A>T	ENSP00000345193.7:p.Ala808=
ENST00000412252.6:c.757+4201A>T	ENSP00000414876.2:n.757+4201A>T
ENST00000601538.6:c.4191A>T MANE Select	ENSP00000469689.2:p.Ala1397=
ENST00000654939.1:c.1619A>T
ENST00000656230.1:c.3054A>T	ENSP00000499561.1:p.Ala1018=
ENST00000659264.1:c.2481A>T	ENSP00000499270.1:p.Ala827=
ENST00000338508.8:c.2427A>T	ENSP00000345193.6:p.Ala809=
ENST00000357171.7:c.718+4201A>T	ENSP00000349694.4:n.718+4201A>T
ENST00000409161.5:c.2403A>T	ENSP00000386491.1:p.Ala801=
ENST00000412252.5:c.755+4201A>T
ENST00000423696.6:c.3054A>T	ENSP00000394536.2:p.Ala1018=
ENST00000424924.5:c.2028A>T	ENSP00000402944.1:p.Ala676=
ENST00000449833.6:c.2427A>T	ENSP00000399423.3:p.Ala809=
ENST00000601538.5:c.4191A>T	ENSP00000469689.2:p.Ala1397=
NM_012309.4:c.4191A>T	NP_036441.2:p.Ala1397=
NM_133266.4:c.2427A>T	NP_573573.2:p.Ala809=
NR_110766.1:n.833+4201A>T
XM_005277930.2:c.4191A>T	XP_005277987.1:p.Ala1397=
XM_005277932.2:c.3054A>T	XP_005277989.1:p.Ala1018=
XM_006718478.2:c.4161A>T	XP_006718541.1:p.Ala1387=
XM_011544854.1:c.4203A>T	XP_011543156.1:p.Ala1401=
XM_011544855.1:c.4182A>T	XP_011543157.1:p.Ala1394=
XM_011544856.1:c.4176A>T	XP_011543158.1:p.Ala1392=
XM_011544857.1:c.4155A>T	XP_011543159.1:p.Ala1385=
XM_011544858.1:c.4203A>T	XP_011543160.1:p.Ala1401=
XM_011544859.1:c.3066A>T	XP_011543161.1:p.Ala1022=
XM_005277932.3:c.3054A>T	XP_005277989.1:p.Ala1018=
XM_017017387.1:c.4191A>T	XP_016872876.1:p.Ala1397=
XM_017017388.1:c.4191A>T	XP_016872877.1:p.Ala1397=
XM_017017389.1:c.4164A>T	XP_016872878.1:p.Ala1388=
XM_017017390.1:c.2481A>T	XP_016872879.1:p.Ala827=
NM_133266.5:c.2427A>T	NP_573573.2:p.Ala809=
NR_110766.2:n.834+4201A>T
NM_001379226.1:c.3054A>T	NP_001366155.1:p.Ala1018=
NM_012309.5:c.4191A>T MANE Select	NP_036441.2:p.Ala1397=